Associate Professor Tony   Roscioli
Conjoint Associate Professor

Associate Professor Tony Roscioli

medicine-health
POW Clinical School Operating

Dr Tony Roscioli is a clinical geneticist at Sydney Children's Hospital and Associate Professor of Neurogenomics, NeuRA, UNSW Medicine.  He currently leads an NHMRC CRE in Neurocognition and the Federal MRFF grant for prenatal genomics, PreGen.

His clinical training has been in the fields of paediatric internal medicine and human genetics with an emphasis on dysmorphology.  The basis of his research interests in gene identification has stemmed from his clinical training in the field of developmental anomalies / congenital malformations.

Dr Roscioli's research training commenced with an 18-month Royal Children's Hospital Foundation Research Fellowship in craniofacial biology (resulting in four papers immediately associated with the research and 9 additional papers in later years).  His PhD studies at UNSW were supported by an NHMRC post-graduate medical and dental scholarship and produced three substantive papers, the major of which was in Nature Genetics, describing the genetic basis of a novel primary immunodeficiency (SP110).

Subsequently, Dr Roscioli was awarded an NHMRC Overseas Biomedical Postdoctoral Fellowship, the oversas component of which was conducted in the leading European Department of Human Genetics at Radbound University Nijmegen Medical Centre, The Netherlands.  This fellowship provided  valuable traiing in genomic medicine with a focus on disorders of neuronal migration, intellecutal disability and craniosynostosis / orofacial clefting.  It has resulted in four major publications regarding the role of FREM1 in metatopic craniosynostosis (PLoS Genetics), PIGV in intellectual disability (Nature Genetics), ACTB and ACTG1 in Baraitser-Winter Syndrome (Nature Genetics), and ISPD, a novel glycosyltransferase as a major gene in Walker-Warburg syndrome (Nature Genetics).

Gene identification has been a major research emphasis in the past 10 years, with the publication of 15 new disease genes. This involved the utilization of complementary techniques including exome sequencing, SNP arrays and homozygosity mapping. Dr Roscioli has co-authored nationally competitive grants including two NHMRC project grants in Australia, a Prinses Beatrix Fonds grant and submitted a CRE in intellectual disability to the NHMRC. He has also co-authored a reference chapter on SP110 and immunodeficiency.

Dr Roscioli is currently supervising two PhD students in genomics, and has previously supervised an honours student in Nijmegen which resulted in co-authorship for her on her first publication (PIGV, Nature Genetics).

Dr Roscioli has taken a leadership role in developing genomic consent forms, which are now approved for use by the HGSA in Australia and New Zealand. Clinical genetic/genomic research skills and expertise in craniofacial and ID disorders will facilitate ongoing success.

Research Keywords:

Mental retardation, genomics, inherited, bioinformatics, gene identification,

Phone
02 9515 3539

Publications

  • Book Chapters | 2007
    Associate Professor Tony Roscioli
    Roscioli T; Ziegler JB; Buckley MF; Wong M, 2007, 'Hepatic veno-occlusive disease with immunodeficiency', in Pagon R (ed.), Gene Reviews, edn. Original, GeneTests, Seattle, pp. 1 - 15
  • Journal articles | 2021
    Associate Professor Tony Roscioli
    Kirk EP; Ong R; Boggs K; Hardy T; Righetti S; Kamien B; Roscioli T; Amor DJ; Bakshi M; Chung CWT; Colley A; Jamieson RV; Liebelt J; Ma A; Pachter N; Rajagopalan S; Ravine A; Wilson M; Caruana J; Casella R; Davis M; Edwards S; Archibald A; McGaughran J; Newson AJ; Laing NG; Delatycki MB, 2021, 'Gene selection for the Australian Reproductive Genetic Carrier Screening Project (“Mackenzie’s Mission”)', European Journal of Human Genetics, vol. 29, pp. 79 - 87, http://dx.doi.org/10.1038/s41431-020-0685-x
    Journal articles | 2021
    Associate Professor Tony Roscioli
    Sundercombe SL; Berbic M; Evans CA; Cliffe C; Elakis G; Temple SEL; Selvanathan A; Ewans L; Quayum N; Nixon CY; Dias KR; Lang S; Richards A; Goh S; Wilson M; Mowat D; Sachdev R; Sandaradura S; Walsh M; Farrar MA; Walsh R; Fletcher J; Kirk EP; Teunisse GM; Schofield D; Buckley MF; Zhu Y; Roscioli T, 2021, 'Clinically Responsive Genomic Analysis Pipelines: Elements to Improve Detection Rate and Efficiency', Journal of Molecular Diagnostics, vol. 23, pp. 894 - 905, http://dx.doi.org/10.1016/j.jmoldx.2021.04.007
    Journal articles | 2021
    Associate Professor Tony Roscioli
    Vavassori S; Chou J; Faletti LE; Haunerdinger V; Opitz L; Joset P; Fraser CJ; Prader S; Gao X; Schuch LA; Wagner M; Hoefele J; Maccari ME; Zhu Y; Elakis G; Gabbett MT; Forstner M; Omran H; Kaiser T; Kessler C; Olbrich H; Frosk P; Almutairi A; Platt CD; Elkins M; Weeks S; Rubin T; Planas R; Marchetti T; Koovely D; Klämbt V; Soliman NA; von Hardenberg S; Klemann C; Baumann U; Lenz D; Klein-Franke A; Schwemmle M; Huber M; Sturm E; Hartleif S; Häffner K; Gimpel C; Brotschi B; Laube G; Güngör T; Buckley MF; Kottke R; Staufner C; Hildebrandt F; Reu-Hofer S; Moll S; Weber A; Kaur H; Ehl S; Hiller S; Geha R; Roscioli T; Griese M; Pachlopnik Schmid J, 2021, 'Multisystem inflammation and susceptibility to viral infections in human ZNFX1 deficiency', Journal of Allergy and Clinical Immunology, http://dx.doi.org/10.1016/j.jaci.2021.03.045
    Journal articles | 2021
    Associate Professor Tony Roscioli
    Minoche AE; Lundie B; Peters GB; Ohnesorg T; Pinese M; Thomas DM; Zankl A; Roscioli T; Schonrock N; Kummerfeld S; Burnett L; Dinger ME; Cowley MJ, 2021, 'ClinSV: clinical grade structural and copy number variant detection from whole genome sequencing data', Genome Medicine, vol. 13, http://dx.doi.org/10.1186/s13073-021-00841-x
    Journal articles | 2021
    Associate Professor Tony Roscioli
    Li D; March ME; Fortugno P; Cox LL; Matsuoka LS; Monetta R; Seiler C; Pyle LC; Bedoukian EC; Sánchez-Soler MJ; Caluseriu O; Grand K; Tam A; Aycinena ARP; Camerota L; Guo Y; Sleiman P; Callewaert B; Kumps C; Dheedene A; Buckley M; Kirk EP; Turner A; Kamien B; Patel C; Wilson M; Roscioli T; Christodoulou J; Cox TC; Zackai EH; Brancati F; Hakonarson H; Bhoj EJ, 2021, 'Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome', Human Genetics, vol. 140, pp. 1061 - 1076, http://dx.doi.org/10.1007/s00439-021-02274-3
    Journal articles | 2021
    Associate Professor Tony Roscioli
    Palmer EE; Sachdev R; Macintosh R; Melo US; Mundlos S; Righetti S; Kandula T; Minoche AE; Puttick C; Gayevskiy V; Hesson L; Idrisoglu S; Shoubridge C; Thai MHN; Davis RL; Drew AP; Sampaio H; Andrews PI; Lawson J; Cardamone M; Mowat D; Colley A; Kummerfeld S; Dinger ME; Cowley MJ; Roscioli T; Bye A; Kirk E, 2021, 'Diagnostic Yield of Whole Genome Sequencing After Nondiagnostic Exome Sequencing or Gene Panel in Developmental and Epileptic Encephalopathies', Neurology, vol. 96, pp. e1770 - e1782, http://dx.doi.org/10.1212/WNL.0000000000011655
    Journal articles | 2021
    Associate Professor Tony Roscioli
    Field MJ; Kumar R; Hackett A; Kayumi S; Shoubridge CA; Ewans LJ; Ivancevic AM; Dudding-Byth T; Carroll R; Kroes T; Gardner AE; Sullivan P; Ha TT; Schwartz CE; Cowley MJ; Dinger ME; Palmer EE; Christie L; Shaw M; Roscioli T; Gecz J; Corbett MA, 2021, 'Different types of disease-causing noncoding variants revealed by genomic and gene expression analyses in families with X-linked intellectual disability', Human Mutation, vol. 42, pp. 835 - 847, http://dx.doi.org/10.1002/humu.24207
    Journal articles | 2020
    Associate Professor Tony Roscioli
    Cheng H; Capponi S; Wakeling E; Marchi E; Li Q; Zhao M; Weng C; Stefan PG; Ahlfors H; Kleyner R; Rope A; Lumaka A; Lukusa P; Devriendt K; Vermeesch J; Posey JE; Palmer EE; Murray L; Leon E; Diaz J; Worgan L; Mallawaarachchi A; Vogt J; de Munnik SA; Dreyer L; Baynam G; Ewans L; Stark Z; Lunke S; Gonçalves AR; Soares G; Oliveira J; Fassi E; Willing M; Waugh JL; Faivre L; Riviere JB; Moutton S; Mohammed S; Payne K; Walsh L; Begtrup A; Guillen Sacoto MJ; Douglas G; Alexander N; Buckley MF; Mark PR; Adès LC; Sandaradura SA; Lupski JR; Roscioli T; Agrawal PB; Kline AD; Wang K; Timmers HTM; Lyon GJ, 2020, 'Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity', Human Mutation, vol. 41, pp. 449 - 464, http://dx.doi.org/10.1002/humu.23936
    Journal articles | 2020
    Associate Professor Tony Roscioli
    Lunke S; Eggers S; Wilson M; Patel C; Barnett CP; Pinner J; Sandaradura SA; Buckley MF; Krzesinski EI; de Silva MG; Brett GR; Boggs K; Mowat D; Kirk EP; Adès LC; Akesson LS; Amor DJ; Ayres S; Baxendale A; Borrie S; Bray A; Brown NJ; Chan CY; Chong B; Cliffe C; Delatycki MB; Edwards M; Elakis G; Fahey MC; Fennell A; Fowles L; Gallacher L; Higgins M; Howell KB; Hunt L; Hunter MF; Jones KJ; King S; Kumble S; Lang S; Le Moing M; Ma A; Phelan D; Quinn MCJ; Richards A; Richmond CM; Riseley J; Rodgers J; Sachdev R; Sadedin S; Schlapbach LJ; Smith J; Springer A; Tan NB; Tan TY; Temple SL; Theda C; Vasudevan A; White SM; Yeung A; Zhu Y; Martyn M; Best S; Roscioli T; Christodoulou J; Stark Z, 2020, 'Feasibility of ultra-rapid exome sequencing in critically ill infants and children with suspected monogenic conditions in the australian public health care system', Obstetrical and Gynecological Survey, vol. 75, pp. 662 - 664, http://dx.doi.org/10.1097/01.ogx.0000722040.32795.04
    Journal articles | 2020
    Associate Professor Tony Roscioli
    Lunke S; Eggers S; Wilson M; Patel C; Barnett CP; Pinner J; Sandaradura SA; Buckley MF; Krzesinski EI; De Silva MG; Brett GR; Boggs K; Mowat D; Kirk EP; Adès LC; Akesson LS; Amor DJ; Ayres S; Baxendale A; Borrie S; Bray A; Brown NJ; Chan CY; Chong B; Cliffe C; Delatycki MB; Edwards M; Elakis G; Fahey MC; Fennell A; Fowles L; Gallacher L; Higgins M; Howell KB; Hunt L; Hunter MF; Jones KJ; King S; Kumble S; Lang S; Le Moing M; Ma A; Phelan D; Quinn MCJ; Richards A; Richmond CM; Riseley J; Rodgers J; Sachdev R; Sadedin S; Schlapbach LJ; Smith J; Springer A; Tan NB; Tan TY; Temple SL; Theda C; Vasudevan A; White SM; Yeung A; Zhu Y; Martyn M; Best S; Roscioli T; Christodoulou J; Stark Z, 2020, 'Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children with Suspected Monogenic Conditions in the Australian Public Health Care System', JAMA - Journal of the American Medical Association, vol. 323, pp. 2503 - 2511, http://dx.doi.org/10.1001/jama.2020.7671
    Journal articles | 2020
    Associate Professor Tony Roscioli
    Van Eyck L; Bruni F; Ronan A; Briggs TA; Roscioli T; Rice GI; Vassallo G; Rodero MP; He L; Taylor RW; Livingston JH; Chrzanowska-Lightowlers ZMA; Crow YJ, 2020, 'Biallelic Mutations in MTPAP Associated with a Lethal Encephalopathy', Neuropediatrics, vol. 51, pp. 178 - 184, http://dx.doi.org/10.1055/s-0039-3400979
    Journal articles | 2020
    Associate Professor Tony Roscioli
    Lessel D; Zeitler DM; Reijnders MRF; Kazantsev A; Hassani Nia F; Bartholomäus A; Martens V; Bruckmann A; Graus V; McConkie-Rosell A; McDonald M; Lozic B; Tan ES; Gerkes E; Johannsen J; Denecke J; Telegrafi A; Zonneveld-Huijssoon E; Lemmink HH; Cham BWM; Kovacevic T; Ramsdell L; Foss K; Le Duc D; Mitter D; Syrbe S; Merkenschlager A; Sinnema M; Panis B; Lazier J; Osmond M; Hartley T; Mortreux J; Busa T; Missirian C; Prasun P; Lüttgen S; Mannucci I; Lessel I; Schob C; Kindler S; Pappas J; Rabin R; Willemsen M; Gardeitchik T; Löhner K; Rump P; Dias KR; Evans CA; Andrews PI; Roscioli T; Brunner HG; Chijiwa C; Lewis MES; Jamra RA; Dyment DA; Boycott KM; Stegmann APA; Kubisch C; Tan EC; Mirzaa GM; McWalter K; Kleefstra T; Pfundt R; Ignatova Z; Meister G; Kreienkamp HJ, 2020, 'Germline AGO2 mutations impair RNA interference and human neurological development', Nature Communications, vol. 11, http://dx.doi.org/10.1038/s41467-020-19572-5
    Journal articles | 2020
    Associate Professor Tony Roscioli
    Kaur S; Van Bergen NJ; Verhey KJ; Nowell CJ; Budaitis B; Yue Y; Ellaway C; Brunetti-Pierri N; Cappuccio G; Bruno I; Boyle L; Nigro V; Torella A; Roscioli T; Cowley MJ; Massey S; Sonawane R; Burton MD; Schonewolf-Greulich B; Tümer Z; Chung WK; Gold WA; Christodoulou J, 2020, 'Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A (KIF1A)', Human Mutation, vol. 41, pp. 1761 - 1774, http://dx.doi.org/10.1002/humu.24079
    Journal articles | 2020
    Associate Professor Tony Roscioli
    Doble B; Schofield D; Evans CA; Groza T; Mattick JS; Field M; Roscioli T, 2020, 'Impacts of genomics on the health and social costs of intellectual disability', Journal of Medical Genetics, vol. 57, pp. 479 - 486, http://dx.doi.org/10.1136/jmedgenet-2019-106445
    Journal articles | 2020
    Associate Professor Tony Roscioli
    Justice CM; Cuellar A; Bala K; Sabourin JA; Cunningham ML; Crawford K; Phipps JM; Zhou Y; Cilliers D; Byren JC; Johnson D; Wall SA; Morton JEV; Noons P; Sweeney E; Weber A; Rees KEM; Wilson LC; Simeonov E; Kaneva R; Yaneva N; Georgiev K; Bussarsky A; Senders C; Zwienenberg M; Boggan J; Roscioli T; Tamburrini G; Barba M; Conway K; Sheffield VC; Brody L; Mills JL; Kay D; Sicko RJ; Langlois PH; Tittle RK; Botto LD; Jenkins MM; LaSalle JM; Lattanzi W; Wilkie AOM; Wilson AF; Romitti PA; Boyadjiev SA, 2020, 'A genome-wide association study implicates the BMP7 locus as a risk factor for nonsyndromic metopic craniosynostosis', Human Genetics, vol. 139, pp. 1077 - 1090, http://dx.doi.org/10.1007/s00439-020-02157-z
    Journal articles | 2020
    Associate Professor Tony Roscioli
    Riley LG; Rudinger-Thirion J; Frugier M; Wilson M; Luig M; Alahakoon TI; Nixon CY; Kirk EP; Roscioli T; Lunke S; Stark Z; Wierenga KJ; Palle S; Walsh M; Higgs E; Arbuckle S; Thirukeswaran S; Compton AG; Thorburn DR; Christodoulou J, 2020, 'The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathy', Human Mutation, vol. 41, pp. 1425 - 1434, http://dx.doi.org/10.1002/humu.24050
    Journal articles | 2020
    Associate Professor Tony Roscioli
    Schofield DJ; Tan O; Shrestha RN; Rajkumar R; West S; Rice M; Kasparian N; Boyle J; Christie L; Leffler M; Murray L; Tanton R; Li J; Roscioli T; Field M, 2020, 'IDMOD: An Australian microsimulation model of lifetime economic and social factors in familial intellectual disability', International Journal of Microsimulation, vol. 13, pp. 52 - 66, http://dx.doi.org/10.34196/ijm.00212
    Journal articles | 2020
    Associate Professor Tony Roscioli
    Selvanathan A; Nixon CY; Zhu Y; Scietti L; Forneris F; Moreno Uribe LM; Lidral AC; Jezewski PA; Mulliken JB; Murray JC; Buckley MF; Cox TC; Roscioli T, 2020, 'CDH1 mutation distribution and type suggests genetic differences between the etiology of orofacial clefting and gastric cancer', Genes, vol. 11, http://dx.doi.org/10.3390/genes11040391
    Journal articles | 2020
    Associate Professor Tony Roscioli
    LeBlanc S; Naveen D; Haan E; Barnett C; Rawlings L; Roscioli T; Poplawski N, 2020, 'CDH1-related blepharocheilodontic syndrome is associated with diffuse gastric cancer risk', American Journal of Medical Genetics, Part A, vol. 182, pp. 1780 - 1784, http://dx.doi.org/10.1002/ajmg.a.61601
    Journal articles | 2020
    Associate Professor Tony Roscioli
    Buckley MF; Elakis G; Lang S; Richards A; Cliffe C; Chan C-Y; Kirk EP; Zhu Y; Roscioli T, 2020, 'Indications and outcomes of rapid turn around time whole exome sequencing studies', Pathology, vol. 52, pp. S29 - S29, http://dx.doi.org/10.1016/j.pathol.2020.01.120
    Journal articles | 2020
    Associate Professor Tony Roscioli
    Kaur S; Van Bergen NJ; Verhey KJ; Nowell CJ; Budaitis B; Yue Y; Ellaway C; Brunetti‐Pierri N; Cappuccio G; Bruno I; Boyle L; Nigro V; Torella A; Roscioli T; Cowley MJ; Massey S; Sonawane R; Burton MD; Schonewolf‐Greulich B; Tümer Z; Chung WK; Gold WA; Christodoulou J, 2020, 'Cover, Volume 41, Issue 10', Human Mutation, vol. 41, http://dx.doi.org/10.1002/humu.24115
    Journal articles | 2019
    Associate Professor Tony Roscioli
    Kirk EP; Barlow-Stewart K; Selvanathan A; Josephi-Taylor S; Worgan L; Rajagopalan S; Cowley MJ; Gayevskiy V; Bittles A; Burnett L; Elakis G; Lo W; Buckley M; Colley A; Roscioli T, 2019, 'Beyond the panel: preconception screening in consanguineous couples using the TruSight One “clinical exome”', Genetics in Medicine, vol. 21, pp. 608 - 612, http://dx.doi.org/10.1038/s41436-018-0082-9
    Journal articles | 2019
    Associate Professor Tony Roscioli
    Kirk EP; Barlow-Stewart K; Josephi-Taylor S; Roscioli T, 2019, 'Response to Suthers and Mina', Genetics in Medicine, vol. 21, pp. 1258, http://dx.doi.org/10.1038/s41436-018-0318-8
    Journal articles | 2019
    Associate Professor Tony Roscioli
    Kang C; Liang C; Ahmad KE; Gu Y; Siow SF; Colebatch JG; Whyte S; Ng K; Cremer PD; Corbett AJ; Davis RL; Roscioli T; Cowley MJ; Park JS; Sue CM; Kumar KR, 2019, 'High Degree of Genetic Heterogeneity for Hereditary Cerebellar Ataxias in Australia', Cerebellum, vol. 18, pp. 137 - 146, http://dx.doi.org/10.1007/s12311-018-0969-7
    Journal articles | 2019
    Associate Professor Tony Roscioli
    Gayevskiy V; Roscioli T; Dinger ME; Cowley MJ, 2019, 'Seave: A comprehensive web platform for storing and interrogating human genomic variation', Bioinformatics, vol. 35, pp. 122 - 125, http://dx.doi.org/10.1093/bioinformatics/bty540
    Journal articles | 2019
    Associate Professor Tony Roscioli
    Ewans LJ; Colley A; Gaston-Massuet C; Gualtieri A; Cowley MJ; McCabe MJ; Anand D; Lachke SA; Scietti L; Forneris F; Zhu Y; Ying K; Walsh C; Kirk EP; Miller D; Giunta C; Sillence D; DInger M; Buckley M; Roscioli T, 2019, 'Pathogenic variants in PLOD3 result in a Stickler syndrome-like connective tissue disorder with vascular complications', Journal of Medical Genetics, vol. 56, pp. 629 - 638, http://dx.doi.org/10.1136/jmedgenet-2019-106019
    Journal articles | 2019
    Associate Professor Tony Roscioli
    Fleming J; Terrill B; Dziadek M; Kirk EP; Roscioli T; Barlow-Stewart K, 2019, 'Personal genomic screening: How best to facilitate preparedness of future clients', European Journal of Medical Genetics, vol. 62, pp. 397 - 404, http://dx.doi.org/10.1016/j.ejmg.2019.05.006
    Journal articles | 2019
    Associate Professor Tony Roscioli
    Cowley MJ; Liu YC; Oliver KL; Carvill G; Myers CT; Gayevskiy V; Delatycki M; Vlaskamp DRM; Zhu Y; Mefford H; Buckley MF; Bahlo M; Scheffer IE; Dinger ME; Roscioli T, 2019, 'Reanalysis and optimisation of bioinformatic pipelines is critical for mutation detection', Human Mutation, vol. 40, pp. 374 - 379, http://dx.doi.org/10.1002/humu.23699
    Journal articles | 2019
    Associate Professor Tony Roscioli
    Palmer EE; Hong S; Al Zahrani F; Hashem MO; Aleisa FA; Ahmed HMJ; Kandula T; Macintosh R; Minoche AE; Puttick C; Gayevskiy V; Drew AP; Cowley MJ; Dinger M; Rosenfeld JA; Xiao R; Cho MT; Yakubu SF; Henderson LB; Guillen Sacoto MJ; Begtrup A; Hamad M; Shinawi M; Andrews MV; Jones MC; Lindstrom K; Bristol RE; Kayani S; Snyder M; Villanueva MM; Schteinschnaider A; Faivre L; Thauvin C; Vitobello A; Roscioli T; Kirk EP; Bye A; Merzaban J; Jaremko Ł; Jaremko M; Sachdev RK; Alkuraya FS; Arold ST, 2019, 'De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome', American Journal of Human Genetics, vol. 104, pp. 542 - 552, http://dx.doi.org/10.1016/j.ajhg.2019.01.013
    Journal articles | 2019
    Associate Professor Tony Roscioli
    Machol K; Rousseau J; Ehresmann S; Garcia T; Nguyen TTM; Spillmann RC; Sullivan JA; Shashi V; Jiang YH; Stong N; Fiala E; Willing M; Pfundt R; Kleefstra T; Cho MT; McLaughlin H; Rosello Piera M; Orellana C; Martínez F; Caro-Llopis A; Monfort S; Roscioli T; Nixon CY; Buckley MF; Turner A; Jones WD; van Hasselt PM; Hofstede FC; van Gassen KLI; Brooks AS; van Slegtenhorst MA; Lachlan K; Sebastian J; Madan-Khetarpal S; Sonal D; Sakkubai N; Thevenon J; Faivre L; Maurel A; Petrovski S; Krantz ID; Tarpinian JM; Rosenfeld JA; Lee BH; Adams DR; Alejandro ME; Allard P; Azamian MS; Bacino CA; Balasubramanyam A; Barseghyan H; Batzli GF; Beggs AH; Behnam B; Bican A; Bick DP; Birch CL; Bonner D; Boone BE; Bostwick BL; Briere LC; Brown DM; Brush M; Burke EA; Burrage LC; Chen S; Clark GD; Coakley TR; Cogan JD; Cooper CM; Cope H; Craigen WJ; D'Souza P; Davids M; Dayal JG; Dell'Angelica EC; Dhar SU; Dillon A; Dipple KM; Donnell-Fink LA; Dorrani N; Dorset DC; Douine ED; Draper DD; Eckstein DJ; Emrick LT; Eng CM; Eskin A; Esteves C; Estwick T; Ferreira C; Fogel BL; Friedman ND; Gahl WA; Glanton E; Godfrey RA; Goldstein DB; Gould SE; Gourdine JPF; Groden CA, 2019, 'Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay', American Journal of Human Genetics, vol. 104, pp. 164 - 178, http://dx.doi.org/10.1016/j.ajhg.2018.11.007
    Journal articles | 2019
    Associate Professor Tony Roscioli
    Ma A; Gurnasinghani S; Kirk EP; McClenaghan C; Singh GK; Grange DK; Pandit C; Zhu Y; Roscioli T; Elakis G; Buckley M; Mehta B; Roberts P; Mervis J; Biggin A; Nichols CG, 2019, 'Glibenclamide treatment in a Cantú syndrome patient with a pathogenic ABCC9 gain-of-function variant: Initial experience', American Journal of Medical Genetics, Part A, vol. 179, pp. 1585 - 1590, http://dx.doi.org/10.1002/ajmg.a.61200
    Journal articles | 2019
    Associate Professor Tony Roscioli
    Evans CA; Pinner J; Chan CY; Bowyer L; Mowat D; Buckley MF; Roscioli T, 2019, 'Fetal diagnosis of Mowat-Wilson syndrome by whole exome sequencing', American Journal of Medical Genetics, Part A, vol. 179, pp. 2152 - 2157, http://dx.doi.org/10.1002/ajmg.a.61295
    Journal articles | 2019
    Associate Professor Tony Roscioli
    Cox TC; Lidral AC; McCoy JC; Liu H; Cox LL; Zhu Y; Anderson RD; Moreno Uribe LM; Anand D; Deng M; Richter CT; Nidey NL; Standley JM; Blue EE; Chong JX; Smith JD; Kirk EP; Venselaar H; Krahn KN; van Bokhoven H; Zhou H; Cornell RA; Glass IA; Bamshad MJ; Nickerson DA; Murray JC; Lachke SA; Thompson TB; Buckley MF; Roscioli T, 2019, 'Mutations in GDF11 and the extracellular antagonist, Follistatin, as a likely cause of Mendelian forms of orofacial clefting in humans', Human Mutation, vol. 40, pp. 1813 - 1825, http://dx.doi.org/10.1002/humu.23793
    Journal articles | 2019
    Associate Professor Tony Roscioli
    Josephi-Taylor S; Barlow-Stewart K; Selvanathan A; Roscioli T; Bittles A; Meiser B; Worgan L; Rajagopalan S; Colley A; Kirk EP, 2019, 'User Acceptability of Whole Exome Reproductive Carrier Testing for Consanguineous Couples in Australia', Journal of Genetic Counseling, vol. 28, pp. 240 - 250, http://dx.doi.org/10.1007/s10897-018-0298-5
    Journal articles | 2019
    Associate Professor Tony Roscioli
    Sundercombe S; Roscioli T; Buckley MF; Zhu Y; Wang NY; Debinski C; McLean CA; Fahey M, 2019, 'An Atypical Case OF Early Neuronal Ceroid Lipofuscinosis Caused by A Previously Undocumented DNAJC5 Nonsense Mutation', Pathology, vol. 51, pp. S33 - S33, http://dx.doi.org/10.1016/j.pathol.2018.12.076
    Journal articles | 2019
    Associate Professor Tony Roscioli
    Cox TC; Lidral AC; McCoy JC; Liu H; Cox LL; Zhu Y; Anderson RD; Moreno Uribe LM; Anand D; Deng M; Richter CT; Nidey NL; Standley JM; Blue EE; Chong JX; Smith JD; Kirk EP; Venselaar H; Krahn KN; Bokhoven H; Zhou H; Cornell RA; Glass IA; Bamshad MJ; Nickerson DA; Murray JC; Lachke SA; Thompson TB; Buckley MF; Roscioli T, 2019, 'Front Cover, Volume 40, Issue 10', Human Mutation, vol. 40, http://dx.doi.org/10.1002/humu.23923
    Journal articles | 2019
    Associate Professor Tony Roscioli
    Josephi-Taylor S; Barlow-Stewart K; Selvanathan A; Roscioli T; Bittles A; Meiser B; Worgan L; Rajagopalan S; Colley A; Kirk EP, 2019, 'User Acceptability of Whole Exome Reproductive Carrier Testing for Consanguineous Couples in Australia.', J Genet Couns, vol. 28, pp. 240 - 250, http://dx.doi.org/10.1007/s10897-018-0298-5
    Journal articles | 2018
    Associate Professor Tony Roscioli
    Ewans LJ; Schofield D; Shrestha R; Zhu Y; Gayevskiy V; Ying K; Walsh C; Lee E; Kirk EP; Colley A; Ellaway C; Turner A; Mowat D; Worgan L; Freckmann ML; Lipke M; Sachdev R; Miller D; Field M; Dinger ME; Buckley MF; Cowley MJ; Roscioli T, 2018, 'Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders', Genetics in Medicine, vol. 20, pp. 1564 - 1574, http://dx.doi.org/10.1038/gim.2018.39
    Journal articles | 2018
    Associate Professor Tony Roscioli
    Gennarino VA; Palmer EE; McDonell LM; Wang L; Adamski CJ; Koire A; See L; Chen CA; Schaaf CP; Rosenfeld JA; Panzer JA; Moog U; Hao S; Bye A; Kirk EP; Stankiewicz P; Breman AM; McBride A; Kandula T; Dubbs HA; Macintosh R; Cardamone M; Zhu Y; Ying K; Dias KR; Cho MT; Henderson LB; Baskin B; Morris P; Tao J; Cowley MJ; Dinger ME; Roscioli T; Caluseriu O; Suchowersky O; Sachdev RK; Lichtarge O; Tang J; Boycott KM; Holder JL; Zoghbi HY, 2018, 'A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures', Cell, vol. 172, pp. 924 - 936.e11, http://dx.doi.org/10.1016/j.cell.2018.02.006
    Journal articles | 2018
    Associate Professor Tony Roscioli
    Cox LL; Cox TC; Moreno Uribe LM; Zhu Y; Richter CT; Nidey N; Standley JM; Deng M; Blue E; Chong JX; Yang Y; Carstens RP; Anand D; Lachke SA; Smith JD; Dorschner MO; Bedell B; Kirk E; Hing AV; Venselaar H; Valencia-Ramirez LC; Bamshad MJ; Glass IA; Cooper JA; Haan E; Nickerson DA; van Bokhoven H; Zhou H; Krahn KN; Buckley MF; Murray JC; Lidral AC; Roscioli T, 2018, 'Mutations in the Epithelial Cadherin-p120-Catenin Complex Cause Mendelian Non-Syndromic Cleft Lip with or without Cleft Palate', American Journal of Human Genetics, vol. 102, pp. 1143 - 1157, http://dx.doi.org/10.1016/j.ajhg.2018.04.009
    Journal articles | 2018
    Associate Professor Tony Roscioli
    Smol T; Petit F; Piton A; Keren B; Sanlaville D; Afenjar A; Baker S; Bedoukian EC; Bhoj EJ; Bonneau D; Boudry-Labis E; Bouquillon S; Boute-Benejean O; Caumes R; Chatron N; Colson C; Coubes C; Coutton C; Devillard F; Dieux-Coeslier A; Doco-Fenzy M; Ewans LJ; Faivre L; Fassi E; Field M; Fournier C; Francannet C; Genevieve D; Giurgea I; Goldenberg A; Green AK; Guerrot AM; Heron D; Isidor B; Keena BA; Krock BL; Kuentz P; Lapi E; Le Meur N; Lesca G; Li D; Marey I; Mignot C; Nava C; Nesbitt A; Nicolas G; Roche-Lestienne C; Roscioli T; Satre V; Santani A; Stefanova M; Steinwall Larsen S; Saugier-Veber P; Picker-Minh S; Thuillier C; Verloes A; Vieville G; Wenzel M; Willems M; Whalen S; Zarate YA; Ziegler A; Manouvrier-Hanu S; Kalscheuer VM; Gerard B; Ghoumid J, 2018, 'MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype', Neurogenetics, vol. 19, pp. 93 - 103, http://dx.doi.org/10.1007/s10048-018-0541-0
    Journal articles | 2018
    Associate Professor Tony Roscioli
    Leblanc S; David D; Colley A; Buckley M; Roscioli T; Barnett C, 2018, 'Atypical skin manifestations in FGFR2-related craniosynostosis syndromes broaden the phenotypic spectrum', Molecular Syndromology, vol. 9, pp. 149 - 153, http://dx.doi.org/10.1159/000488439
    Journal articles | 2018
    Associate Professor Tony Roscioli
    Basilicata MF; Bruel AL; Semplicio G; Valsecchi CIK; Aktaş T; Duffourd Y; Rumpf T; Morton J; Bache I; Szymanski WG; Gilissen C; Vanakker O; Õunap K; Mittler G; van der Burgt I; El Chehadeh S; Cho MT; Pfundt R; Tan TY; Kirchhoff M; Menten B; Vergult S; Lindstrom K; Reis A; Johnson DS; Fryer A; McKay V; Fisher RB; Thauvin-Robinet C; Francis D; Roscioli T; Pajusalu S; Radtke K; Ganesh J; Brunner HG; Wilson M; Faivre L; Kalscheuer VM; Thevenon J; Akhtar A, 2018, 'De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation', Nature Genetics, vol. 50, pp. 1442 - 1451, http://dx.doi.org/10.1038/s41588-018-0220-y
    Journal articles | 2018
    Associate Professor Tony Roscioli
    Palmer EE; Schofield D; Shrestha R; Kandula T; Macintosh R; Lawson JA; Andrews I; Sampaio H; Johnson AM; Farrar MA; Cardamone M; Mowat D; Elakis G; Lo W; Zhu Y; Ying K; Morris P; Tao J; Dias KR; Buckley M; Dinger ME; Cowley MJ; Roscioli T; Kirk EP; Bye A; Sachdev RK, 2018, 'Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness', Molecular Genetics and Genomic Medicine, vol. 6, pp. 186 - 199, http://dx.doi.org/10.1002/mgg3.355
    Journal articles | 2018
    Associate Professor Tony Roscioli
    Lee E; Le T; Zhu Y; Elakis G; Turner A; Lo W; Venselaar H; Verrenkamp CA; Snow N; Mowat D; Kirk EP; Sachdev R; Smith J; Brown NJ; Wallis M; Barnett C; McKenzie F; Freckmann ML; Collins F; Chopra M; Gregersen N; Hayes I; Rajagopalan S; Tan TY; Stark Z; Savarirayan R; Yeung A; Adès L; Gattas M; Gibson K; Gabbett M; Amor DJ; Lattanzi W; Boyd S; Haan E; Gianoutsos M; Cox TC; Buckley MF; Roscioli T, 2018, 'A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations', Genetics in Medicine, vol. 20, pp. 1061 - 1068, http://dx.doi.org/10.1038/gim.2017.214
    Journal articles | 2018
    Associate Professor Tony Roscioli
    McCarthy J; Lupo PJ; Kovar E; Rech M; Bostwick B; Scott D; Kraft K; Roscioli T; Charrow J; Schrier Vergano SA; Lose E; Smiegel R; Lacassie Y; Schaaf CP, 2018, 'Schaaf-Yang syndrome overview: Report of 78 individuals', American Journal of Medical Genetics, Part A, vol. 176, pp. 2564 - 2574, http://dx.doi.org/10.1002/ajmg.a.40650
    Journal articles | 2018
    Associate Professor Tony Roscioli
    Kaur R; Meiser B; Yanes T; Young M-A; Barlow-Stewart K; Roscioli T; Smith S; James PA, 2018, 'Development and pilot testing of a leaflet informing women with breast cancer about genomic testing for polygenic risk', Familial Cancer, http://dx.doi.org/10.1007/s10689-018-0104-4
    Journal articles | 2018
    Associate Professor Tony Roscioli
    Cliffe C; Elakis G; Zhu Y; Mullan G; Mead R; Kirk E; Lau C; Buckley MF; Roscioli T, 2018, 'The validation of a diagnostic exome sequencing service for the investigation of monogenic disorders', Pathology, vol. 50, pp. S63 - S64, http://dx.doi.org/10.1016/j.pathol.2017.12.149
    Journal articles | 2017
    Associate Professor Tony Roscioli
    Platzer K; Yuan H; Schütz H; Winschel A; Chen W; Hu C; Kusumoto H; Heyne HO; Helbig KL; Tang S; Willing MC; Tinkle BT; Adams DJ; Depienne C; Keren B; Mignot C; Frengen E; Strømme P; Biskup S; Döcker D; Strom TM; Mefford HC; Myers CT; Muir AM; LaCroix A; Sadleir L; Scheffer IE; Brilstra E; van Haelst MM; van der Smagt JJ; Bok LA; Møller RS; Jensen UB; Millichap JJ; Berg AT; Goldberg EM; De Bie I; Fox S; Major P; Jones JR; Zackai EH; Abou Jamra R; Rolfs A; Leventer RJ; Lawson JA; Roscioli T; Jansen FE; Ranza E; Korff CM; Lehesjoki AE; Courage C; Linnankivi T; Smith DR; Stanley C; Mintz M; McKnight D; Decker A; Tan WH; Tarnopolsky MA; Brady LI; Wolff M; Dondit L; Pedro HF; Parisotto SE; Jones KL; Patel AD; Franz DN; Vanzo R; Marco E; Ranells JD; Di Donato N; Dobyns WB; Laube B; Traynelis SF; Lemke JR, 2017, 'GRIN2B encephalopathy: Novel findings on phenotype, variant clustering, functional consequences and treatment aspects', Journal of Medical Genetics, vol. 54, pp. 460 - 470, http://dx.doi.org/10.1136/jmedgenet-2016-104509
    Journal articles | 2017
    Associate Professor Tony Roscioli
    Doble B; Schofield DJ; Roscioli T; Mattick JS, 2017, 'Prioritising the application of genomic medicine', npj Genomic Medicine, vol. 2, http://dx.doi.org/10.1038/s41525-017-0037-0
    Journal articles | 2017
    Associate Professor Tony Roscioli
    Riley LG; Cowley MJ; Gayevskiy V; Roscioli T; Thorburn DR; Prelog K; Bahlo M; Sue CM; Balasubramaniam S; Christodoulou J, 2017, 'A SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disorders', Journal of Inherited Metabolic Disease, vol. 40, pp. 261 - 269, http://dx.doi.org/10.1007/s10545-016-0010-6
    Journal articles | 2017
    Associate Professor Tony Roscioli
    Balasubramaniam S; Riley LG; Bratkovic D; Ketteridge D; Manton N; Cowley MJ; Gayevskiy V; Roscioli T; Mohamed M; Gardeitchik T; Morava E; Christodoulou J, 2017, 'Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency', Journal of Inherited Metabolic Disease, vol. 40, pp. 745 - 747, http://dx.doi.org/10.1007/s10545-017-0036-4
    Journal articles | 2017
    Associate Professor Tony Roscioli
    Murray N; Burgess B; Hay R; Colley A; Rajagopalan S; McGaughran J; Patel C; Enriquez A; Goodwin L; Stark Z; Tan T; Wilson M; Roscioli T; Tekin M; Goel H, 2017, 'KBG syndrome: An Australian experience', American Journal of Medical Genetics, Part A, vol. 173, pp. 1866 - 1877, http://dx.doi.org/10.1002/ajmg.a.38121
    Journal articles | 2017
    Associate Professor Tony Roscioli
    Baynam G; Broley S; Bauskis A; Pachter N; McKenzie F; Townshend S; Slee J; Kiraly-Borri C; Vasudevan A; Hawkins A; Schofield L; Helmholz P; Palmer R; Kung S; Walker CE; Molster C; Lewis B; Mina K; Beilby J; Pathak G; Poulton C; Groza T; Zankl A; Roscioli T; Dinger ME; Mattick JS; Gahl W; Groft S; Tifft C; Taruscio D; Lasko P; Kosaki K; Wilhelm H; Melegh B; Carapetis J; Jana S; Chaney G; Johns A; Owen PW; Daly F; Weeramanthri T; Dawkins H; Goldblatt J, 2017, 'Initiating an undiagnosed diseases program in the Western Australian public health system', Orphanet Journal of Rare Diseases, vol. 12, http://dx.doi.org/10.1186/s13023-017-0619-z
    Journal articles | 2017
    Associate Professor Tony Roscioli
    Ewans LJ; Field M; Zhu Y; Turner G; Leffler M; Dinger ME; Cowley MJ; Buckley MF; Scheffer IE; Jackson MR; Roscioli T; Shoubridge C, 2017, 'Gonadal mosaicism of a novel IQSEC2 variant causing female limited intellectual disability and epilepsy', European Journal of Human Genetics, vol. 25, pp. 763 - 767, http://dx.doi.org/10.1038/ejhg.2017.29
    Journal articles | 2017
    Associate Professor Tony Roscioli
    Teoh HL; Carey K; Sampaio H; Mowat D; Roscioli T; Farrar M, 2017, 'Inherited Paediatric Motor Neuron Disorders: Beyond Spinal Muscular Atrophy', Neural Plasticity, vol. 2017, http://dx.doi.org/10.1155/2017/6509493
    Journal articles | 2017
    Associate Professor Tony Roscioli
    Gururaj S; Palmer EE; Sheehan GD; Kandula T; Macintosh R; Ying K; Morris P; Tao J; Dias KR; Zhu Y; Dinger ME; Cowley MJ; Kirk EP; Roscioli T; Sachdev R; Duffey ME; Bye A; Bhattacharjee A, 2017, 'A De Novo Mutation in the Sodium-Activated Potassium Channel KCNT2 Alters Ion Selectivity and Causes Epileptic Encephalopathy', Cell Reports, vol. 21, pp. 926 - 933, http://dx.doi.org/10.1016/j.celrep.2017.09.088
    Journal articles | 2017
    Associate Professor Tony Roscioli
    Baynam G; Bowman F; Lister K; Walker CE; Pachter N; Goldblatt J; Boycott KM; Gahl WA; Kosaki K; Adachi T; Ishii K; Mahede T; McKenzie F; Townshend S; Slee J; Kiraly-Borri C; Vasudevan A; Hawkins A; Broley S; Schofield L; Verhoef H; Groza T; Zankl A; Robinson PN; Haendel M; Brudno M; Mattick JS; Dinger ME; Roscioli T; Cowley MJ; Olry A; Hanauer M; Alkuraya FS; Taruscio D; Posada De La Paz M; Lochmüller H; Bushby K; Thompson R; Hedley V; Lasko P; Mina K; Beilby J; Tifft C; Davis M; Laing NG; Julkowska D; Le Cam Y; Terry SF; Kaufmann P; Eerola I; Norstedt I; Rath A; Suematsu M; Groft SC; Austin CP; Draghia-Akli R; Weeramanthri TS; Molster C; Dawkins HJS, 2017, 'Improved diagnosis and care for rare diseases through implementation of precision public health framework', Advances in Experimental Medicine and Biology, vol. 1031, pp. 55 - 94, http://dx.doi.org/10.1007/978-3-319-67144-4_4
    Journal articles | 2017
    Associate Professor Tony Roscioli
    De Sousa SMC; McCabe MJ; Wu K; Roscioli T; Gayevskiy V; Brook K; Rawlings L; Scott HS; Thompson TJ; Earls P; Gill AJ; Cowley MJ; Dinger ME; McCormack AI, 2017, 'Germline variants in familial pituitary tumour syndrome genes are common in young patients and families with additional endocrine tumours', European Journal of Endocrinology, vol. 176, pp. 635 - 644, http://dx.doi.org/10.1530/EJE-16-0944
    Journal articles | 2017
    Associate Professor Tony Roscioli
    Liu H; Busch T; Eliason S; Anand D; Bullard S; Gowans LJJ; Nidey N; Petrin A; Augustine-Akpan EA; Saadi I; Dunnwald M; Lachke SA; Zhu Y; Adeyemo A; Amendt B; Roscioli T; Cornell R; Murray J; Butali A, 2017, 'Exome sequencing provides additional evidence for the involvement of ARHGAP29 in mendelian orofacial clefting and extends the phenotypic spectrum to isolated cleft palate', Birth Defects Research, vol. 109, pp. 27 - 37, http://dx.doi.org/10.1002/bdra.23596
    Journal articles | 2017
    Associate Professor Tony Roscioli
    Yanes T; meiser B; Young MA; Kaur R; Mitchell G; Barlow-Stewart K; Roscioli T; Halliday J; James P, 2017, 'Psychosocial and behavioral impact of breast cancer risk assessed by testing for common risk variants: protocol of a prospective study', BMC Cancer, vol. 17, http://dx.doi.org/10.1186/s12885-017-3485-0
    Journal articles | 2016
    Associate Professor Tony Roscioli
    Teoh HL; Solyom A; Schuchman EH; Mowat D; Roscioli T; Farrar M; Sampaio H, 2016, 'Polyarticular arthritis and spinal muscular atrophy in acid ceramidase deficiency', Pediatrics, vol. 138, http://dx.doi.org/10.1542/peds.2016-1068
    Journal articles | 2016
    Associate Professor Tony Roscioli
    Heimer G; Kerätär JM; Riley LG; Balasubramaniam S; Eyal E; Pietikäinen LP; Hiltunen JK; Marek-Yagel D; Hamada J; Gregory A; Rogers C; Hogarth P; Nance MA; Shalva N; Veber A; Tzadok M; Nissenkorn A; Tonduti D; Renaldo F; Bamshad MJ; Leal SM; Nickerson DA; Anderson P; Annable M; Blue EM; Buckingham KJ; Chin J; Chong JX; Cornejo R; Davis CP; Frazar C; He Z; Jarvik GP; Jimenez G; Johanson E; Kolar T; Krauter SA; Luksic D; Marvin CT; McGee S; McGoldrick DJ; Patterson K; Perez M; Phillips SW; Pijoan J; Robertson PD; Santos-Cortez R; Shankar A; Slattery K; Shively KM; Siegel DL; Smith JD; Tackett M; Wang G; Wegener M; Weiss JM; Wernick RI; Wheeler MM; Yi Q; Kraoua I; Panteghini C; Valletta L; Garavaglia B; Cowley MJ; Gayevskiy V; Roscioli T; Silberstein JM; Hoffmann C; Raas-Rothschild A; Tiranti V; Anikster Y; Christodoulou J; Kastaniotis AJ; Ben-Zeev B; Hayflick SJ, 2016, 'MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder', American Journal of Human Genetics, vol. 99, pp. 1229 - 1244, http://dx.doi.org/10.1016/j.ajhg.2016.09.021
    Journal articles | 2016
    Associate Professor Tony Roscioli
    Kumar KR; Wali GM; Kamate M; Wali G; Minoche AE; Puttick C; Pinese M; Gayevskiy V; Dinger ME; Roscioli T; Sue CM; Cowley MJ, 2016, 'Defining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencing', Neurogenetics, vol. 17, pp. 265 - 270, http://dx.doi.org/10.1007/s10048-016-0495-z
    Journal articles | 2016
    Associate Professor Tony Roscioli
    Kruszka P; Addissie YA; Yarnell CMP; Hadley DW; Guillen Sacoto MJ; Platte P; Paelecke Y; Collmann H; Snow N; Schweitzer T; Boyadjiev SA; Aravidis C; Hall SE; Mulliken JB; Roscioli T; Muenke M, 2016, 'Muenke syndrome: An international multicenter natural history study', American Journal of Medical Genetics, Part A, vol. 170, pp. 918 - 929, http://dx.doi.org/10.1002/ajmg.a.37528
    Journal articles | 2016
    Associate Professor Tony Roscioli
    Stoll M; Teoh H; Lee J; Reddel S; Zhu Y; Buckley M; Sampaio H; Roscioli T; Farrar M; Nicholson G, 2016, 'Novel motor phenotypes in patients with VRK1 mutations without pontocerebellar hypoplasia', Neurology, vol. 87, pp. 65 - 70, http://dx.doi.org/10.1212/WNL.0000000000002813
    Journal articles | 2016
    Associate Professor Tony Roscioli
    Doble B; Schofield DJ; Roscioli T; Mattick JS, 2016, 'The promise of personalised medicine', The Lancet, vol. 387, pp. 433 - 434, http://dx.doi.org/10.1016/S0140-6736(16)00176-8
    Journal articles | 2016
    Associate Professor Tony Roscioli
    Teoh HL; Sampaio H; Roscioli T; Farrar M, 2016, 'Approaches to genetic diagnosis in neuromuscular conditions in the era of next generation sequencing', Journal of Neurology, Neurosurgery and Psychiatry, vol. 87, pp. 1384 - 1385, http://dx.doi.org/10.1136/jnnp-2016-313812
    Journal articles | 2016
    Associate Professor Tony Roscioli
    Farrar MA; Teoh HL; Brammah S; Roscioli T; Cardamone M, 2016, 'Glial mitochondropathy in infantile neuroaxonal dystrophy: Pathophysiological and therapeutic implications', Brain, vol. 139, pp. e67, http://dx.doi.org/10.1093/brain/aww174
    Journal articles | 2015
    Associate Professor Tony Roscioli
    Ma CS; Wong N; Rao G; Avery DT; Torpy J; Hambridge T; Bustamante J; Okada S; Stoddard JL; Deenick EK; Pelham SJ; Payne K; Boisson-Dupuis S; Puel A; Kobayashi M; Arkwright PD; Kilic SS; El Baghdadi J; Nonoyama S; Minegishi Y; Mahdaviani SA; Mansouri D; Bousfiha A; Blincoe AK; French MA; Hsu P; Campbell DE; Stormon MO; Wong M; Adelstein S; Smart JM; Fulcher DA; Cook MC; Phan TG; Stepensky P; Boztug K; Kansu A; Ikincioʇullari A; Baumann U; Beier R; Roscioli T; Ziegler JB; Gray P; Picard C; Grimbacher B; Warnatz K; Holland SM; Casanova JL; Uzel G; Tangye SG, 2015, 'Monogenic mutations differentially affect the quantity and quality of T follicular helper cells in patients with human primary immunodeficiencies', Journal of Allergy and Clinical Immunology, vol. 136, pp. 993 - 1006.e1, http://dx.doi.org/10.1016/j.jaci.2015.05.036
    Journal articles | 2015
    Associate Professor Tony Roscioli
    Riemersma M; Mandel H; Van Beusekom E; Gazzoli I; Roscioli T; Eran A; Gershoni-Baruch R; Gershoni M; Pietrokovski S; Vissers LE; Lefeber DJ; Willemsen MA; Wevers RA; Van Bokhoven H, 2015, 'Absence of α-and β-dystroglycan is associated with Walker-Warburg syndrome', Neurology, vol. 84, pp. 2177 - 2182, http://dx.doi.org/10.1212/WNL.0000000000001615
    Journal articles | 2015
    Associate Professor Tony Roscioli
    Palmer EE; Hayner J; Sachdev R; Cardamone M; Kandula T; Morris P; Dias KR; Tao J; Miller D; Zhu Y; Macintosh R; Dinger ME; Cowley MJ; Buckley MF; Roscioli T; Bye A; Kilberg MS; Kirk EP, 2015, 'Asparagine Synthetase Deficiency causes reduced proliferation of cells under conditions of limited asparagine', Molecular Genetics and Metabolism, vol. 116, pp. 178 - 186, http://dx.doi.org/10.1016/j.ymgme.2015.08.007
    Journal articles | 2015
    Associate Professor Tony Roscioli
    Tomas-Roca L; Tsaalbi-Shtylik A; Jansen JG; Singh MK; Epstein JA; Altunoglu U; Verzijl H; Soria L; Van Beusekom E; Roscioli T; Iqbal Z; Gilissen C; Hoischen A; De Brouwer APM; Erasmus C; Schubert D; Brunner H; Pérez Aytés A; Marin F; Aroca P; Kayserili H; Carta A; De Wind N; Padberg GW; Van Bokhoven H, 2015, 'De novo mutations in PLXND1 and REV3L cause Möbius syndrome', Nature Communications, vol. 6, http://dx.doi.org/10.1038/ncomms8199
    Journal articles | 2015
    Associate Professor Tony Roscioli
    Gray PE; O’Brien TA; Wagle M; Tangye SG; Palendira U; Roscioli T; Choo S; Sutton R; Ziegler JB; Frith K, 2015, 'Cerebral Vasculitis in X-linked Lymphoproliferative Disease Cured by Matched Unrelated Cord Blood Transplant', Journal of Clinical Immunology, vol. 35, pp. 604 - 609, http://dx.doi.org/10.1007/s10875-015-0194-9
    Journal articles | 2015
    Associate Professor Tony Roscioli
    Gray PEA; Logan GJ; Alexander IE; Poulton S; Roscioli T; Ziegler J, 2015, 'A novel intronic splice site deletion of the IL-2 receptor common gamma chain results in expression of a dysfunctional protein and T-cell-positive X-linked Severe combined immunodeficiency', International Journal of Immunogenetics, vol. 42, pp. 11 - 14, http://dx.doi.org/10.1111/iji.12166
    Journal articles | 2014
    Associate Professor Tony Roscioli
    Thompson MD; Roscioli T; Hwang PA; Robinson PN; Andrade DM; Krawitz P, 2014, '8. Genetic basis of Mabry’s syndrome', Clinical Neurophysiology, vol. 125, pp. e12 - e12, http://dx.doi.org/10.1016/j.clinph.2013.09.021
    Journal articles | 2014
    Associate Professor Tony Roscioli
    McBean R; Roscioli T; Hyland C; Flower R, 2014, 'Next generation sequencing of an australian family to identify the genetic basis of a rare blood group antigen', Pathology, vol. 46, pp. S87 - S88, http://dx.doi.org/10.1097/01.pat.0000443640.76441.70
    Journal articles | 2013
    Associate Professor Tony Roscioli
    Roscioli T; Elakis G; Cox TC; Moon DJ; Venselaar H; Turner AM; Le T; Hackett E; Haan E; Colley A; Mowat D; Worgan L; Kirk EP; Sachdev R; Thompson E; Gabbett M; Mcgaughran J; Gibson K; Gattas M; Freckmann ML; Dixon J; Hoefsloot L; Field M; Hackett A; Kamien B; Edwards M; Adès LC; Collins FA; Wilson MJ; Savarirayan R; Tan TY; Amor DJ; Mcgillivray G; White SM; Glass IA; David DJ; Anderson PJ; Gianoutsos M; Buckley MF, 2013, 'Genotype and clinical care correlations in craniosynostosis: Findings from a cohort of 630 australian and new zealand patients', American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, vol. 163, pp. 259 - 270, http://dx.doi.org/10.1002/ajmg.c.31378
    Journal articles | 2013
    Associate Professor Tony Roscioli
    Khandelwal KD; van Bokhoven H; Roscioli T; Carels CEL; Zhou H, 2013, 'Genomic approaches for studying craniofacial disorders', American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, vol. 163, pp. 218 - 231, http://dx.doi.org/10.1002/ajmg.c.31379
    Journal articles | 2013
    Associate Professor Tony Roscioli
    Buysse K; Riemersma M; Powell G; Van reeuwijk J; Chitayat D; Roscioli T; Kamsteeg EJ; Van den elzen C; Van beusekom E; Blaser S; Babul-Hirji R; Halliday W; Wright GJ; Stemple DL; Lin YY; Lefeber DJ; Van bokhoven H, 2013, 'Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome', Human Molecular Genetics, vol. 22, pp. 1746 - 1754, http://dx.doi.org/10.1093/hmg/ddt021
    Journal articles | 2013
    Associate Professor Tony Roscioli
    Keupp K; Li Y; Vargel I; Hoischen A; Richardson R; Neveling K; Alanay Y; Uz E; Elcioğlu N; Rachwalski M; Kamaci S; Tunçbilek G; Akin B; Grötzinger J; Konas E; Mavili E; Müller-Newen G; Collmann H; Roscioli T; Buckley MF; Yigit G; Gilissen C; Kress W; Veltman J; Hammerschmidt M; Akarsu NA; Wollnik B, 2013, 'Mutations in the interleukin receptor cause autosomal recessive Crouzon-like craniosynostosis', Molecular Genetics & Genomic Medicine, vol. 1, pp. 223 - 237, http://dx.doi.org/10.1002/mgg3.28
    Journal articles | 2013
    Associate Professor Tony Roscioli
    Makrythanasis P; van Bon BW; Steehouwer M; Rodríguez-Santiago B; Simpson M; Dias P; Anderlid BM; Arts P; Bhat M; Augello B; Biamino E; Bongers EMHF; del Campo M; Cordeiro I; Cueto-González AM; Cuscó I; Deshpande C; Frysira E; Izatt L; Flores R; Galán E; Gener B; Gilissen C; Granneman SM; Hoyer J; Yntema HG; Kets CM; Koolen DA; Marcelis CL; Medeira A; Micale L; Mohammed S; de Munnik SA; Nordgren A; Psoni S; Reardon W; Revencu N; Roscioli T; Ruiterkamp-Versteeg M; Santos HG; Schoumans J; Schuurs-Hoeijmakers JHM; Silengo MC; Toledo L; Vendrell T; van der Burgt I; van Lier B; Zweier C; Reymond A; Trembath RC; Perez-Jurado L; Dupont J; de Vries BBA; Brunner HG; Veltman JA; Merla G; Antonarakis SE; Hoischen A, 2013, 'MLL2 mutation detection in 86 patients with Kabuki syndrome: A genotype-phenotype study', Clinical Genetics, vol. 84, pp. 539 - 545, http://dx.doi.org/10.1111/cge.12081
    Journal articles | 2013
    Associate Professor Tony Roscioli
    Ganaiem H; Eisenstein EM; Tenenbaum ; Somech R; Simanovsky N; Roscioli T; Weintraub M; Stepensky P, 2013, 'The role of hematopoietic stem cell transplantation in SP110 associated veno-occlusive disease with immunodeficiency syndrome', Pediatric Allergy and Immunology, vol. 24, pp. 250 - 256, http://dx.doi.org/10.1111/pai.12051
    Journal articles | 2013
    Associate Professor Tony Roscioli
    Handley TW; Morris-Rosendahl DJ; Brown S; Macdonald F; Hardy C; Bem D; Carpanini SM; Borck G; Martorell L; Izzi C; Faravelli F; Accorsi P; Pinelli L; Basel-Vanagaite L; Peretz G; Abdel-Salam GMH; Zaki MS; Jansen A; Mowat DR; Glass IA; Stewart H; Mancini GMS; Lederer D; Roscioli T; Giuliano F; Plomp AS; Rolfs A; Graham JM; Seemanova E; Poo P; Garcia-Cazorla A; Edery P; Jackson IJ; Aligianis IA; Maher ER, 2013, 'Mutation Spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and Genotype-Phenotype Correlations in Warburg Micro Syndrome and Martsolf Syndrome', Human Mutation, vol. 34, pp. 686 - 696, http://dx.doi.org/10.1002/humu.22296
    Journal articles | 2013
    Associate Professor Tony Roscioli
    Grau T; Burbulla LF; Engl G; Delettre C; Delprat B; Oexle K; Leo-Kottler B; Roscioli T; Krüger R; Rapaport D; Wissinger B; Schimpf-Linzenbold S, 2013, 'A novel heterozygous OPA3 mutation located in the mitochondrial target sequence results in altered steady-state levels and fragmented mitochondrial network', Journal of Medical Genetics, vol. 50, pp. 848 - 858, http://dx.doi.org/10.1136/jmedgenet-2013-101774
    Journal articles | 2012
    Associate Professor Tony Roscioli
    Krawitz PM; Murakami Y; Hecht J; Kruger U; Holder SE; Roscioli T, 2012, 'Mutations in PIGO, a Member of the GPI-Anchor-Synthesis Pathway, Cause Hyperphosphatasia with Mental Retardation', American Journal of Human Genetics, vol. 91, pp. 146 - 151, http://dx.doi.org/10.1016/j.ajhg.2012.05.004
    Journal articles | 2012
    Associate Professor Tony Roscioli
    Justice CM; Yagnik G; Kim Y; Peter I; Jabs EW; Erazo M; Roscioli T, 2012, 'A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9', Nature Genetics, vol. 44, pp. 1360 - 1364, http://dx.doi.org/10.1038/ng.2463
    Journal articles | 2012
    Associate Professor Tony Roscioli
    Wang T; Ong P; Roscioli T; Cliffe ST; Church J, 2012, 'Hepatic veno-occlusive disease with immunodeficiency (VODI): First reported case in the U.S. and identification of a unique mutation in Sp110', Clinical Immunology, vol. 145, pp. 102 - 107, http://dx.doi.org/10.1016/j.clim.2012.07.016
    Journal articles | 2012
    Associate Professor Tony Roscioli
    Cliffe S; Bloch D; Suryani S; Kamsteeg E; Avery D; Palendira U; Church J; Wainstein B; Trizzino A; Lefranc G; Akatcherian C; Megarbane A; Gilissen C; Moshous D; Reichenbach J; Misbah S; Salzer U; Abinun M; Ong P; Stepensky P; Ruga E; Ziegler JB; Wong M; Tangye SG; Lindeman R; Buckley M; Roscioli T, 2012, 'Clinical, molecular, and cellular immunologic findings in patients with SP110-associated veno-occlusive disease with immunodeficiency syndrome', Journal of Allergy and Clinical Immunology, vol. 130, pp. 735 - 742, http://dx.doi.org/10.1016/j.jaci.2012.02.054
    Journal articles | 2012
    Associate Professor Tony Roscioli
    Thompson M; Roscioli T; Marcelis C; Nezarati MM; Stolte-dijkstra I, 2012, 'Phenotypic variability in hyperphosphatasia with seizures and neurologic deficit (Mabry syndrome)', American Journal of Medical Genetics Part A, vol. 158A, pp. 553 - 558, http://dx.doi.org/10.1002/ajmg.a.35202
    Journal articles | 2012
    Associate Professor Tony Roscioli
    Roscioli T; Kamsteeg E; Buysse K; Maystadt I; Van reeuwijk J, 2012, 'Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of [alpha]-dystroglycan', Nature Genetics, vol. 44, pp. 581 - 585, http://dx.doi.org/10.1038/ng.2253
    Journal articles | 2012
    Associate Professor Tony Roscioli
    Riviere J; Van bon BWM; Hoischen A; Kholmanskikh SS; Roscioli T, 2012, 'De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome', Nature Genetics, vol. 44, pp. 440 - 444, http://dx.doi.org/10.1038/ng.1091
    Journal articles | 2012
    Associate Professor Tony Roscioli
    Kim S; Liu JL; Roscioli T; Buckley M; Yagnik G; Boyadjiev SA; Kim J, 2012, 'Leucine-rich repeat, immunoglobulin-like and transmembrane domain 3 (LRIT3) is a modulator of FGFR1', FEBS Letters, vol. 586, pp. 1516 - 1521, http://dx.doi.org/10.1016/j.febslet.2012.04.010
    Journal articles | 2012
    Associate Professor Tony Roscioli
    Roscioli T, 2012, 'Next generation sequencing: a practical approach to an ethical framework for use in diagnostics and research', Pathology, vol. 44, pp. S30 - S30, http://dx.doi.org/10.1016/s0031-3025(16)32672-1
    Journal articles | 2011
    Associate Professor Tony Roscioli
    Guillard M; Morava E; De Ruijter J; Roscioli T; Penzien J; Van Den Heuvel L; Willemsen MA; De Brouwer A; Bodamer OA; Wevers RA; Lefeber DJ, 2011, 'B4GALT1-congenital disorders of glycosylation presents as a non-neurologic glycosylation disorder with hepatointestinal involvement', Journal of Pediatrics, vol. 159, http://dx.doi.org/10.1016/j.jpeds.2011.08.007
    Journal articles | 2011
    Associate Professor Tony Roscioli
    Vissers LELM; Cox TC; Maga AM; Short KM; Wiradjaja F; Janssen IM; Jehee F; Bertola D; Liu J; Yagnik G; Sekiguchi K; Kiyozumi D; van Bokhoven H; Marcelis C; Cunningham ML; Anderson PJ; Boyadjiev SA; Passos-Bueno MR; Veltman JA; Smyth I; Buckley MF; Roscioli T, 2011, 'Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice', PLoS Genetics, vol. 7, http://dx.doi.org/10.1371/journal.pgen.1002278
    Journal articles | 2011
    Associate Professor Tony Roscioli
    Rieubland C; Holmes AD; Caramins M; Roscioli T; Amor DJ, 2011, 'Lambdoid synostosis and craniofacial dysmorphism with normal intellect: A novel syndrome?', American Journal of Medical Genetics, Part A, vol. 155, pp. 233 - 234, http://dx.doi.org/10.1002/ajmg.a.33776
    Journal articles | 2010
    Associate Professor Tony Roscioli
    Kouwenhoven EN; va Heeringen SJ; Tena JJ; Oti M; Dutilh BE; Alonso ME; de la Elisa CM; Smeenk L; Rinne T; Parsaulian L; Bolat E; Jurgelenaite R; Huynen MA; Hoischen A; Veltman JA; Brunner HG; Roscioli T; Oates E; Wilson M; Manzanares M; José LGS; Stunnenberg HG; Lohrum M; van Bokhoven H; Zhou H, 2010, 'Genome-wide profiling of p63 DNA-binding sites identifies an element that regulates gene expression during limb development in the 7q21 shfm1 locus', PLoS Genetics, vol. 6, http://dx.doi.org/10.1371/journal.pgen.1001065
    Journal articles | 2010
    Associate Professor Tony Roscioli
    van Reeuwijk J; Olderode-Berends MJW; van den Elzen C; Brouwer OF; Roscioli T; van Pampus MG; Scheffer H; Brunner HG; van Bokhoven H; Hol FA, 2010, 'A homozygous FKRP start codon mutation is associated with Walker-Warburg syndrome, the severe end of the clinical spectrum', Clinical Genetics, vol. 78, pp. 275 - 281, http://dx.doi.org/10.1111/j.1399-0004.2010.01384.x
    Journal articles | 2010
    Associate Professor Tony Roscioli
    Krawitz PM; Schweiger MR; Rödelsperger C; Marcelis C; Kölsch U; Meisel C; Stephani F; Kinoshita T; Murakami Y; Bauer S; Isau M; Fischer A; Dahl A; Kerick M; Hecht J; Köhler S; Jäger M; Grünhagen J; De Condor BJ; Doelken S; Brunner HG; Meinecke P; Passarge E; Thompson MD; Cole DE; Horn D; Roscioli T; Mundlos S; Robinson PN, 2010, 'Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome', Nature Genetics, vol. 42, pp. 827 - 829, http://dx.doi.org/10.1038/ng.653
    Journal articles | 2009
    Associate Professor Tony Roscioli
    Ramjan KA; Roscioli T; Rutsch F; Sillence D; Munns CFJ, 2009, 'Generalized arterial calcification of infancy: Treatment with bisphosphonates', Nature Clinical Practice Endocrinology and Metabolism, vol. 5, pp. 167 - 172, http://dx.doi.org/10.1038/ncpendmet1067
    Journal articles | 2009
    Associate Professor Tony Roscioli
    Bochukova E; Roscioli T; Hedges D; Taylor I; Johnson D; David DJ; Deininger P; Wilkie A, 2009, 'Rare mutations of FGFR2 causing apert syndrome: Identification of the first partial gene deletion, and an Alu element insertion from a new subfamily', Human Mutation, vol. 30, pp. 204 - 211, http://dx.doi.org/10.1002/humu.20825
    Journal articles | 2009
    Associate Professor Tony Roscioli
    Cliffe S; Kramer MA; Hussain K; Robben J; de Jong E; de Brouwer A; Nibbeling E; Kamsteeg E; Wong M; Prendiville J; James C; Padidela R; Becknell C; van Bokhoven H; Deen P; Hennekam RC; Lindeman R; Schenck A; Roscioli T; Buckley M, 2009, 'SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway', Human Molecular Genetics, vol. 18, pp. 2257 - 2265, http://dx.doi.org/10.1093/hmg/ddp161
    Journal articles | 2009
    Associate Professor Tony Roscioli
    Ramjan K; Roscioli T; Rutsch F; Sillence D; Munns C, 2009, 'Erratum: Generalized arterial calcification of infancy: Treatment with bisphosphonates (Nature Clinical Practice Endocrinology & Metabolism (2009) 5 (167-172))', Nature Reviews Endocrinology, vol. 5, pp. 183, http://dx.doi.org/10.1038/nrendo.2009.56
    Journal articles | 2009
    Associate Professor Tony Roscioli
    Padidela R; James C; Cliffe ST; Kramer JM; Robben JH; de Jong EK; de Brouwer AP; Nibbeling E; Kamsteeg E-J; Wong M; Prendiville J; Becknell C; van Bokhoven H; Deen PMT; Hennekam RCM; Lindeman R; Schenck A; Roscioli T; Buckley MF; Hussain K, 2009, 'Pigmentary hypertrichosis and insulin dependent diabetes mellitus (PHID) is caused by mutations in the SLC29A3 gene encoding the human equilibrative nucleoside transporter-3 protein (hENT3)', HORMONE RESEARCH, vol. 72, pp. 39 - 39, http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000270489900123&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Journal articles | 2009
    Associate Professor Tony Roscioli
    James P; Culling B; Mullan GL; Jenkins MA; Elalkis G; Turners A; Mowat D; Wilson M; Anderson P; Savarirayan R; Cliffe ST; Caramins MC; Buckley MF; Tucker K; Roscioli T, 2009, 'Breast Cancer Risk Is Not Increased in Individuals with TWISTI Mutation Confirmed Saethre-Chotzen Syndrome: An Australian Multicenter Study', Genes Chromosomes and Cancer, vol. 48, pp. 533 - 538, http://dx.doi.org/10.1002/gcc.20661
    Journal articles | 2008
    Associate Professor Tony Roscioli
    Zankl A; Elakis G; Susman RD; Inglis G; Gardener G; Buckley MF; Roscioli T, 2008, 'Prenatal and postnatal presentation of severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) due to the FGFR3 Lys650Met mutation', American Journal of Medical Genetics, Part A, vol. 146, pp. 212 - 218, http://dx.doi.org/10.1002/ajmg.a.32085
    Journal articles | 2008
    Associate Professor Tony Roscioli
    Freeman L; Elakis G; Watson G; Mullan GL; Taylor PJ; Anderson P; Ogle R; Buckley MF; Roscioli T, 2008, 'Pfeiffer syndrome with neonatal death secondary to tracheal obstruction owing to the FGFR2 Glu565Ala mutation', Clinical Dysmorphology, vol. 17, pp. 223 - 224, http://dx.doi.org/10.1097/MCD.0b013e3282fdcc86
    Journal articles | 2007
    Associate Professor Tony Roscioli
    Anderson PJ; Cox TC; Roscioli T; Elakis G; Smithers L; David DJ; Powell B, 2007, 'Somatic FGFR and TWIST mutations are not a common cause of isolated nonsyndromic single suture craniosynostosis', Journal of Craniofacial Surgery, vol. 18, pp. 312 - 314, http://dx.doi.org/10.1097/scs.0b013e31802d6e76
    Journal articles | 2007
    Associate Professor Tony Roscioli
    Cliffe ST; Wong MB; Taylor PJ; Ruga E; Wilcken B; Lindeman R; Buckley MF; Roscioli T, 2007, 'The first prenatal diagnosis for veno-occlusive disease and immunodeficiency syndrome, an autosomal recessive condition associated with mutations in SP110', Prenatal Diagnosis, vol. 27, pp. 674 - 676, http://dx.doi.org/10.1002/pd.1759
    Journal articles | 2007
    Associate Professor Tony Roscioli
    Khong JJ; Anderson PJ; Hammerton M; Roscioli T; Selva D; David DJ, 2007, 'Differential effects of FGFR2 mutation in ophthalmic findings in Apert syndrome', Journal of Craniofacial Surgery, vol. 18, pp. 39 - 42, http://dx.doi.org/10.1097/01.scs.0000249358.74343.70
    Journal articles | 2007
    Associate Professor Tony Roscioli
    Munns CF; Roscioli T; Sillence DO, 2007, 'Infantile arterial calcification: Successful treatment with bisphosphonates', Bone, vol. 40, pp. S68 - S68, http://dx.doi.org/10.1016/j.bone.2007.04.094
    Journal articles | 2006
    Associate Professor Tony Roscioli
    Roscioli T; Cliffe ST; Bloch D; Bell C; Mullan GL; Taylor PJ; Sarris M; Wang J; Donald JA; Kirk EP; Ziegler JB; Salzer U; McDonald GB; Wong M; Lindeman R; Buckley MF, 2006, 'Mutations in the gene encoding the PML nuclear body protein Sp110 are associated with immunodeficiency and hepatic veno-occlusive disease', Nature Genetics, vol. 38, pp. 620 - 622, http://dx.doi.org/10.1038/ng1780
    Journal articles | 2006
    Associate Professor Tony Roscioli
    McGaughran J; Sinnott S; Susman R; Buckley MF; Elakis G; Cox T; Roscioli T, 2006, 'A case of Beare-Stevenson syndrome with a broad spectrum of features and a review of the FGFR2 Y375C mutation phenotype', Clinical Dysmorphology, vol. 15, pp. 89 - 93, http://dx.doi.org/10.1097/01.mcd.0000194407.92676.9d
    Journal articles | 2006
    Associate Professor Tony Roscioli
    Varol A; Stapleton K; Roscioli T, 2006, 'The syndrome of hereditary leiomyomatosis and renal cell cancer (HLRCC): The clinical features of an individual with a fumarate hydratase gene mutation', Australasian Journal of Dermatology, vol. 47, pp. 274 - 276, http://dx.doi.org/10.1111/j.1440-0960.2006.00294.x
    Journal articles | 2006
    Associate Professor Tony Roscioli
    Anderson PJ; Netherway DJ; Cox TC; Roscioli T; David DJ, 2006, 'Do craniosynostosis syndrome phenotypes with both FGFR2 and TWIST mutations have a worse clinical outcome?', Journal of Craniofacial Surgery, vol. 17, pp. 166 - 172, http://dx.doi.org/10.1097/01.scs.0000169000.58376.0f
    Journal articles | 2005
    Associate Professor Tony Roscioli
    Elliott AM; Reed MH; Roscioli T; Evans JA, 2005, 'Discrepancies in upper and lower limb patterning in split hand foot malformation', Clinical Genetics, vol. 68, pp. 408 - 423, http://dx.doi.org/10.1111/j.1399-0004.2005.00511.x
    Journal articles | 2005
    Associate Professor Tony Roscioli
    Roscioli T; Kennedy D; Cui JS; Fonseca BK; Watson GF; Pereira JK; Xie Y; Mowat DR, 2005, 'Pallister-Hall syndrome: Unreported skeletal features of a GLI3 mutation', American Journal of Medical Genetics Part A, vol. 136A, pp. 390 - 394, http://dx.doi.org/10.1002/ajmg.a.30818
    Journal articles | 2005
    Associate Professor Tony Roscioli
    McGillivray G; Savarirayan R; Cox TC; Stojkoski C; McNeil R; Bankier A; Bateman JF; Roscioli T; Gardner RJM; Lamandé SR, 2005, 'Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain', Journal of Medical Genetics, vol. 42, pp. 656 - 662, http://dx.doi.org/10.1136/jmg.2004.027888
    Journal articles | 2004
    Associate Professor Tony Roscioli
    Roscioli T; Taylor PC; Bohlken A; Donald JA; Masel J; Glass I; Buckley MF, 2004, 'The 10q24-linked split hand/split foot syndrome (SHFM3): Narrowing ofthe critical region and confirmation of the clinical phenotype', American Journal of Medical Genetics Part A, vol. 124A, pp. 136 - 141
    Journal articles | 2004
    Associate Professor Tony Roscioli
    Anderson PJ; Netherway DJ; Abbott AH; Cox T; Roscioli T; David DJ, 2004, 'Analysis of intracranial volume in Apert syndrome genotypes', Pediatric Neurosurgery, vol. 40, pp. 161 - 164, http://dx.doi.org/10.1159/000081933
    Journal articles | 2004
    Associate Professor Tony Roscioli
    Morris AR; Mullan GL; Roscioli T; Buckley MF; Moore CH, 2004, 'A genetic linkage study of detrusor overactivity', Neurourology and Urodynamics, vol. 23, pp. 404 - 406, http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000223051900007&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a
    Journal articles | 2003
    Associate Professor Tony Roscioli
    Rutsch F; Ruf N; Vaingankar S; Toliat MR; Suk A; Höhne W; Schauer G; Lehmann M; Roscioli T; Schnabel D; Epplen JT; Knisely A; Superti-Furga A; McGill J; Filippone M; Sinaiko AR; Vallance H; Hinrichs B; Smith W; Ferre M; Terkeltaub R; Nürnberg P, 2003, 'Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification', Nature Genetics, vol. 34, pp. 379 - 381, http://dx.doi.org/10.1038/ng1221
    Journal articles | 2003
    Associate Professor Tony Roscioli
    Hyland VJ; Robertson SP; Flanagan S; Savarirayan R; Roscioli T; Masel J; Hayes M; Glass IA, 2003, 'Somatic and germline mosaicism for a R248C missense mutation in FGFR3, resulting in a skeletal dysplasia distinct from thanatophoric dysplasia', American Journal of Medical Genetics, vol. 120 A, pp. 157 - 168, http://dx.doi.org/10.1002/ajmg.a.20012
    Journal articles | 2002
    Associate Professor Tony Roscioli
    Milledge J; Shaw PJ; Mansour A; Williamson S; Bennetts B; Roscioli T; Curtin J; Christodoulou J, 2002, 'Allogeneic bone marrow transplantation: Cure for familial Mediterranean fever', Blood, vol. 100, pp. 774 - 777, http://dx.doi.org/10.1182/blood-2002-02-0651
    Journal articles | 2001
    Associate Professor Tony Roscioli
    Roscioli T; Flanagan S; Mortimore RJ; Kumar P; Weedon D; Masel J; Lewandowski R; Hyland V; Glass IA, 2001, 'Premature calvarial synostosis and epidermal hyperplasia (Beare-Stevenson syndrome-like anomalies) resulting from a P250R missense mutation in the gene encoding fibroblast growth factor receptor 3', American Journal of Medical Genetics, vol. 101, pp. 187 - 194, http://dx.doi.org/10.1002/ajmg.1369
    Journal articles | 2000
    Associate Professor Tony Roscioli
    Roscioli T; Flanagan S; Kumar P; Masel J; Gattas M; Hyland VJ; Glass IA, 2000, 'Clinical findings in a patient with FGFR1 P252R mutation and comparison with the literature', American Journal of Medical Genetics, vol. 93, pp. 22 - 28, http://dx.doi.org/10.1002/1096-8628(20000703)93:1<22::AID-AJMG5>3.0.CO;2-U
  • Other | 2019
    Associate Professor Tony Roscioli
    Palmer EE; Hong S; Al Zahrani F; Hashem MO; Aleisa FA; Jalal Ahmed HM; Kandula T; Macintosh R; Minoche AE; Puttick C; Gayevskiy V; Drew AP; Cowley MJ; Dinger M; Rosenfeld JA; Xiao R; Cho MT; Yakubu SF; Henderson LB; Guillen Sacoto MJ; Begtrup A; Hamad M; Shinawi M; Andrews MV; Jones MC; Lindstrom K; Bristol RE; Kayani S; Snyder M; Villanueva MM; Schteinschnaider A; Faivre L; Thauvin C; Vitobello A; Roscioli T; Kirk EP; Bye A; Merzaban J; Jaremko Ł; Jaremko M; Sachdev RK; Alkuraya FS; Arold ST, 2019, Erratum: De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-progressive Neurocognitive Syndrome (The American Journal of Human Genetics (2019) 104(3) (542–552), (S0002929719300138), (10.1016/j.ajhg.2019.01.013)), http://dx.doi.org/10.1016/j.ajhg.2019.03.016
    Conference Abstracts | 2016
    Associate Professor Tony Roscioli
    Goodnow C; Reed J; Burnett D; Brink R; Christ D; Schofield P; Perotti S; Enders A; Ziegler J; Wainstein B; Roscioli T; Gray P, 2016, 'Redemption or Revolt of Forbidden Clones: Mutations, Autoantibodies and CTLA4-Ig Therapy', in EUROPEAN JOURNAL OF IMMUNOLOGY, WILEY-BLACKWELL, Melbourne, AUSTRALIA, Vol. 46, pp. 3 - 3, presented at International Congress of Immunology (ICI), Melbourne, AUSTRALIA, 21 August 2016 - 26 August 2016, http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000383610400007&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Posters | 2015
    Associate Professor Tony Roscioli
    Gray P; Buckley M; Ziegler J; Lo W; Elakise G; Mackintosh R; Mullan G; O'Brien T; Walsh C; Minoche A; Zhu Y; Gayevskiy V; Lee E; Cowley M; Dinger M; Roscioli T, 2015, 'MENDELIAN ERRORS ASSIST IN CALLING COPY NUMBER VARIATION FROM GENOMIC SEQUENCING DATA: AN ILLUSTRATIVE CASE OF HETEROZYGOUS FAS DELETION', Vol. 45, pp. 21 - 21, http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000360834700069&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Papers | 2014
    Associate Professor Tony Roscioli
    Gray P; Walsh C; Zhu Y; Elakis G; Mullan G; Lo W; Lee E; Cowley M; Dinger M; Buckley M; Ziegler J; Tangye S; Roscioli T, 2014, 'Extrapulmonary Non-Tuberculous Mycobacterial Infection in a Child with Autosomal Dominant Hyper IgE Syndrome', in JOURNAL OF CLINICAL IMMUNOLOGY, SPRINGER/PLENUM PUBLISHERS, Prague, CZECH REPUBLIC, pp. S499 - S500, presented at 16th Biennial Meeting of the European-Society-for-Immunodeficiencies, Prague, CZECH REPUBLIC, 29 October 2014 - 01 November 2014, http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000347389100775&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Abstracts | 2014
    Associate Professor Tony Roscioli
    Gray PE; Walsh C; Zhu Y; Elakis G; Mullan G; Lo W; Lee E; Kashef S; Cowley M; Dinger M; Buckley MF; Ziegler JB; Roscioli T, 2014, 'A SUCCESSFUL APPLICATION OF NEXT GENERATION SEQUENCING TO THE DIAGNOSIS OF ADAPTIVE PRIMARY IMMUNODEFICIENCY', in INTERNAL MEDICINE JOURNAL, WILEY-BLACKWELL, Vol. 44, pp. 10 - 10, http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000342722800033&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Papers | 2014
    Associate Professor Tony Roscioli
    Gray P; Walsh C; Elakis G; Buckley M; Ziegler J; Roscioli T, 2014, 'A Successful Application of Next Generation Sequencing to the Diagnosis of Adaptive Primary Immunodeficiency', in JOURNAL OF CLINICAL IMMUNOLOGY, SPRINGER/PLENUM PUBLISHERS, Prague, CZECH REPUBLIC, pp. S343 - S344, presented at 16th Biennial Meeting of the European-Society-for-Immunodeficiencies, Prague, CZECH REPUBLIC, 29 October 2014 - 01 November 2014, http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000347389100435&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Papers | 2008
    Associate Professor Tony Roscioli
    Wang T; Ong P; Roscioli T; Cliffe ST; Lindeman R; Buckley MF; Church J, 2008, 'Veno-occlusive disease with immunodeficiency (VODI): First reported case in the US and identification of a unique mutation in the gene encoding a PML nuclear body protein, SP110', in Clinical Immunology, Academic Press Inc Elsevier Science, San Diego, Ca, USA, pp. S61 - S61, presented at 8th Annual Meeting of the Federation-of-Clinical-Immunology-Societies, Boston, Massachusetts, 05 June 2008 - 09 June 2008, http://dx.doi.org/10.1016/j.clim.2008.03.168
    Conference Papers | 2003
    Associate Professor Tony Roscioli
    Roscioli T; Buckley MF; Taylor PJ; Kirk E; Ziegler J; Wong M; Donald JA; Lindeman R, 2003, 'Familial veno-occlusive disease of the liver with immunodeficiency: Localization to a 1Mb region of 2q36.3-37.1 via homozygosity mapping.', in AMERICAN JOURNAL OF HUMAN GENETICS, UNIV CHICAGO PRESS, LOS ANGELES, CALIFORNIA, pp. 467 - 467, presented at Annual Meeting of the American-Society-of-Human-Genetics, LOS ANGELES, CALIFORNIA, 04 November 2003 - 08 November 2003, http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000185599701744&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Papers | 2003
    Associate Professor Tony Roscioli
    Turner AM; Roscioli T; Elakis G; Taylor PJ; Cox T; Haan E; Oley C; McGaughran J; Dixon J; Edwards M; Savarirayan R; Gianoutsos M; David DJ; Buckley MF; Pospisil V, 2003, 'Molecular testing for TWIST and FGFR1-3 mutations in a cohort of 153 craniofacial patients.', in AMERICAN JOURNAL OF HUMAN GENETICS, UNIV CHICAGO PRESS, LOS ANGELES, CALIFORNIA, pp. 212 - 212, presented at Annual Meeting of the American-Society-of-Human-Genetics, LOS ANGELES, CALIFORNIA, 04 November 2003 - 08 November 2003, http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000185599700254&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Papers | 2002
    Associate Professor Tony Roscioli
    Roscioli T; Buckley MF; Kirk E; Isaacs D; Wong M; Ziegler J; Lindeman R, 2002, 'Familial Veno-occlusive disease of the liver with immunodeficiency: homozygosity mapping and call for patients', in AMERICAN JOURNAL OF HUMAN GENETICS, UNIV CHICAGO PRESS, BALTIMORE, MARYLAND, pp. 282 - 282, presented at 52nd Annual Meeting of the American-Society-of-Human-Genetics, BALTIMORE, MARYLAND, 15 October 2002 - 19 October 2002, http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000178025800648&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

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